Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.3457342A=CA2281035485TGIF1c.184-23A= (n.184-23A=)
c.244-23A= (n.244-23A=)
c.631-23A= (n.631-23A=)
c.244-55A= (n.244-55A=)
c.286-23A= (n.286-23A=)
c.253-23A= (n.253-23A=)
18g.3457342A>GCA8875915TGIF1c.184-23A>G (n.184-23A>G)
c.244-23A>G (n.244-23A>G)
c.631-23A>G (n.631-23A>G)
c.244-55A>G (n.244-55A>G)
c.286-23A>G (n.286-23A>G)
c.253-23A>G (n.253-23A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457342_3457343insCCA2576446387TGIF1c.184-23_184-22insC (n.184-23_184-22insC)
c.244-23_244-22insC (n.244-23_244-22insC)
c.631-23_631-22insC (n.631-23_631-22insC)
c.244-55_244-54insC (n.244-55_244-54insC)
c.286-23_286-22insC (n.286-23_286-22insC)
c.253-23_253-22insC (n.253-23_253-22insC)
18g.3457345G>ACA657365494TGIF1c.184-20G>A (n.184-20G>A)
c.244-20G>A (n.244-20G>A)
c.631-20G>A (n.631-20G>A)
c.244-52G>A (n.244-52G>A)
c.286-20G>A (n.286-20G>A)
c.253-20G>A (n.253-20G>A)
COSMIC
18g.3457346C>ACA778689917TGIF1c.184-19C>A (n.184-19C>A)
c.244-19C>A (n.244-19C>A)
c.631-19C>A (n.631-19C>A)
c.244-51C>A (n.244-51C>A)
c.286-19C>A (n.286-19C>A)
c.253-19C>A (n.253-19C>A)
dbSNP gnomAD v4
18g.3457346C=CA2281035486TGIF1c.184-19C= (n.184-19C=)
c.244-19C= (n.244-19C=)
c.631-19C= (n.631-19C=)
c.244-51C= (n.244-51C=)
c.286-19C= (n.286-19C=)
c.253-19C= (n.253-19C=)
18g.3457346C>GCA778689919TGIF1c.184-19C>G (n.184-19C>G)
c.244-19C>G (n.244-19C>G)
c.631-19C>G (n.631-19C>G)
c.244-51C>G (n.244-51C>G)
c.286-19C>G (n.286-19C>G)
c.253-19C>G (n.253-19C>G)
dbSNP gnomAD v3 gnomAD v4
18g.3457346C>TCA8875916TGIF1c.184-19C>T (n.184-19C>T)
c.244-19C>T (n.244-19C>T)
c.631-19C>T (n.631-19C>T)
c.244-51C>T (n.244-51C>T)
c.286-19C>T (n.286-19C>T)
c.253-19C>T (n.253-19C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457347G>ACA628073994TGIF1c.184-18G>A (n.184-18G>A)
c.244-18G>A (n.244-18G>A)
c.631-18G>A (n.631-18G>A)
c.244-50G>A (n.244-50G>A)
c.286-18G>A (n.286-18G>A)
c.253-18G>A (n.253-18G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.3457347G=CA2281035487TGIF1c.184-18G= (n.184-18G=)
c.244-18G= (n.244-18G=)
c.631-18G= (n.631-18G=)
c.244-50G= (n.244-50G=)
c.286-18G= (n.286-18G=)
c.253-18G= (n.253-18G=)
18g.3457347G>TCA628073997TGIF1c.184-18G>T (n.184-18G>T)
c.244-18G>T (n.244-18G>T)
c.631-18G>T (n.631-18G>T)
c.244-50G>T (n.244-50G>T)
c.286-18G>T (n.286-18G>T)
c.253-18G>T (n.253-18G>T)
dbSNP gnomAD v2 gnomAD v4
18g.3457350C>ACA2576446388TGIF1c.184-15C>A (n.184-15C>A)
c.244-15C>A (n.244-15C>A)
c.631-15C>A (n.631-15C>A)
c.244-47C>A (n.244-47C>A)
c.286-15C>A (n.286-15C>A)
c.253-15C>A (n.253-15C>A)
gnomAD v4
18g.3457350C>TCA2640852937TGIF1c.184-15C>T (n.184-15C>T)
c.244-15C>T (n.244-15C>T)
c.631-15C>T (n.631-15C>T)
c.244-47C>T (n.244-47C>T)
c.286-15C>T (n.286-15C>T)
c.253-15C>T (n.253-15C>T)
gnomAD v4
18g.3457351dupCA2640852935TGIF1c.184-14dup (n.184-14dup)
c.244-14dup (n.244-14dup)
c.631-14dup (n.631-14dup)
c.244-46dup (n.244-46dup)
c.286-14dup (n.286-14dup)
c.253-14dup (n.253-14dup)
gnomAD v4
18g.3457351C>ACA2281035489TGIF1c.184-14C>A (n.184-14C>A)
c.244-14C>A (n.244-14C>A)
c.631-14C>A (n.631-14C>A)
c.244-46C>A (n.244-46C>A)
c.286-14C>A (n.286-14C>A)
c.253-14C>A (n.253-14C>A)
dbSNP gnomAD v4
18g.3457351C=CA2281035488TGIF1c.184-14C= (n.184-14C=)
c.244-14C= (n.244-14C=)
c.631-14C= (n.631-14C=)
c.244-46C= (n.244-46C=)
c.286-14C= (n.286-14C=)
c.253-14C= (n.253-14C=)
18g.3457351C>TCA295566951TGIF1c.184-14C>T (n.184-14C>T)
c.244-14C>T (n.244-14C>T)
c.631-14C>T (n.631-14C>T)
c.244-46C>T (n.244-46C>T)
c.286-14C>T (n.286-14C>T)
c.253-14C>T (n.253-14C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.3457352G>ACA8875917TGIF1c.184-13G>A (n.184-13G>A)
c.244-13G>A (n.244-13G>A)
c.631-13G>A (n.631-13G>A)
c.244-45G>A (n.244-45G>A)
c.286-13G>A (n.286-13G>A)
c.253-13G>A (n.253-13G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457352G=CA2281035490TGIF1c.184-13G= (n.184-13G=)
c.244-13G= (n.244-13G=)
c.631-13G= (n.631-13G=)
c.244-45G= (n.244-45G=)
c.286-13G= (n.286-13G=)
c.253-13G= (n.253-13G=)
18g.3457353A=CA2281035491TGIF1c.184-12A= (n.184-12A=)
c.244-12A= (n.244-12A=)
c.631-12A= (n.631-12A=)
c.244-44A= (n.244-44A=)
c.286-12A= (n.286-12A=)
c.253-12A= (n.253-12A=)
18g.3457353A>GCA8875918TGIF1c.184-12A>G (n.184-12A>G)
c.244-12A>G (n.244-12A>G)
c.631-12A>G (n.631-12A>G)
c.244-44A>G (n.244-44A>G)
c.286-12A>G (n.286-12A>G)
c.253-12A>G (n.253-12A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457354T>CCA2281035493TGIF1c.184-11T>C (n.184-11T>C)
c.244-11T>C (n.244-11T>C)
c.631-11T>C (n.631-11T>C)
c.244-43T>C (n.244-43T>C)
c.286-11T>C (n.286-11T>C)
c.253-11T>C (n.253-11T>C)
dbSNP
18g.3457354T=CA2281035492TGIF1c.184-11T= (n.184-11T=)
c.244-11T= (n.244-11T=)
c.631-11T= (n.631-11T=)
c.244-43T= (n.244-43T=)
c.286-11T= (n.286-11T=)
c.253-11T= (n.253-11T=)
18g.3457354_3457357delinsTATGCA2281035494TGIF1c.184-11_184-8delinsTATG (n.184-11_184-8delinsTATG)
c.244-11_244-8delinsTATG (n.244-11_244-8delinsTATG)
c.631-11_631-8delinsTATG (n.631-11_631-8delinsTATG)
c.244-43_244-40delinsTATG (n.244-43_244-40delinsTATG)
c.286-11_286-8delinsTATG (n.286-11_286-8delinsTATG)
c.253-11_253-8delinsTATG (n.253-11_253-8delinsTATG)
18g.3457355A=CA2281035495TGIF1c.184-10A= (n.184-10A=)
c.244-10A= (n.244-10A=)
c.631-10A= (n.631-10A=)
c.244-42A= (n.244-42A=)
c.286-10A= (n.286-10A=)
c.253-10A= (n.253-10A=)
18g.3457355A>GCA8875919TGIF1c.184-10A>G (n.184-10A>G)
c.244-10A>G (n.244-10A>G)
c.631-10A>G (n.631-10A>G)
c.244-42A>G (n.244-42A>G)
c.286-10A>G (n.286-10A>G)
c.253-10A>G (n.253-10A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457357_3457359delCA987313819TGIF1c.184-8_184-6del (n.184-8_184-6del)
c.244-8_244-6del (n.244-8_244-6del)
c.631-8_631-6del (n.631-8_631-6del)
c.244-40_244-38del (n.244-40_244-38del)
c.286-8_286-6del (n.286-8_286-6del)
c.253-8_253-6del (n.253-8_253-6del)
dbSNP gnomAD v3 gnomAD v4
18g.3457356T>CCA8875920TGIF1c.184-9T>C (n.184-9T>C)
c.244-9T>C (n.244-9T>C)
c.631-9T>C (n.631-9T>C)
c.244-41T>C (n.244-41T>C)
c.286-9T>C (n.286-9T>C)
c.253-9T>C (n.253-9T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457356T=CA2281035496TGIF1c.184-9T= (n.184-9T=)
c.244-9T= (n.244-9T=)
c.631-9T= (n.631-9T=)
c.244-41T= (n.244-41T=)
c.286-9T= (n.286-9T=)
c.253-9T= (n.253-9T=)
18g.3457357G>TCA2734476854TGIF1c.184-8G>T (n.184-8G>T)
c.244-8G>T (n.244-8G>T)
c.631-8G>T (n.631-8G>T)
c.244-40G>T (n.244-40G>T)
c.286-8G>T (n.286-8G>T)
c.253-8G>T (n.253-8G>T)
dbSNP
18g.3457362C>TCA2576446389TGIF1c.184-3C>T (n.184-3C>T)
c.244-3C>T (n.244-3C>T)
c.631-3C>T (n.631-3C>T)
c.244-35C>T (n.244-35C>T)
c.286-3C>T (n.286-3C>T)
c.253-3C>T (n.253-3C>T)
18g.3457363A>CCA401723092TGIF1c.184-2A>C (n.184-2A>C)
c.244-2A>C (n.244-2A>C)
c.631-2A>C (n.631-2A>C)
c.244-34A>C (n.244-34A>C)
c.286-2A>C (n.286-2A>C)
c.253-2A>C (n.253-2A>C)
18g.3457363A>GCA401723090TGIF1c.184-2A>G (n.184-2A>G)
c.244-2A>G (n.244-2A>G)
c.631-2A>G (n.631-2A>G)
c.244-34A>G (n.244-34A>G)
c.286-2A>G (n.286-2A>G)
c.253-2A>G (n.253-2A>G)
18g.3457363A>TCA401723091TGIF1c.184-2A>T (n.184-2A>T)
c.244-2A>T (n.244-2A>T)
c.631-2A>T (n.631-2A>T)
c.244-34A>T (n.244-34A>T)
c.286-2A>T (n.286-2A>T)
c.253-2A>T (n.253-2A>T)
18g.3457364G>ACA401723093TGIF1c.184-1G>A (n.184-1G>A)
c.244-1G>A (n.244-1G>A)
c.631-1G>A (n.631-1G>A)
c.244-33G>A (n.244-33G>A)
c.286-1G>A (n.286-1G>A)
c.253-1G>A (n.253-1G>A)
18g.3457364G>CCA401723094TGIF1c.184-1G>C (n.184-1G>C)
c.244-1G>C (n.244-1G>C)
c.631-1G>C (n.631-1G>C)
c.244-33G>C (n.244-33G>C)
c.286-1G>C (n.286-1G>C)
c.253-1G>C (n.253-1G>C)
18g.3457364G>TCA401723095TGIF1c.184-1G>T (n.184-1G>T)
c.244-1G>T (n.244-1G>T)
c.631-1G>T (n.631-1G>T)
c.244-33G>T (n.244-33G>T)
c.286-1G>T (n.286-1G>T)
c.253-1G>T (n.253-1G>T)
18g.3457365G>ACA401723096TGIF1c.184G>A (p.Val62Ile)
c.244G>A (p.Val82Ile)
c.631G>A (p.Val211Ile)
c.244-32G>A (n.244-32G>A)
c.286G>A (p.Val96Ile)
c.253G>A (p.Val85Ile)
18g.3457365G>CCA401723097TGIF1c.184G>C (p.Val62Leu)
c.244G>C (p.Val82Leu)
c.631G>C (p.Val211Leu)
c.244-32G>C (n.244-32G>C)
c.286G>C (p.Val96Leu)
c.253G>C (p.Val85Leu)
18g.3457365G>TCA401723098TGIF1c.184G>T (p.Val62Phe)
c.244G>T (p.Val82Phe)
c.631G>T (p.Val211Phe)
c.244-32G>T (n.244-32G>T)
c.286G>T (p.Val96Phe)
c.253G>T (p.Val85Phe)
18g.3457366T>ACA401723099TGIF1c.185T>A (p.Val62Asp)
c.245T>A (p.Val82Asp)
c.632T>A (p.Val211Asp)
c.244-31T>A (n.244-31T>A)
c.287T>A (p.Val96Asp)
c.254T>A (p.Val85Asp)
18g.3457366T>CCA401723100TGIF1c.185T>C (p.Val62Ala)
c.245T>C (p.Val82Ala)
c.632T>C (p.Val211Ala)
c.244-31T>C (n.244-31T>C)
c.287T>C (p.Val96Ala)
c.254T>C (p.Val85Ala)
18g.3457366T>GCA401723101TGIF1c.185T>G (p.Val62Gly)
c.245T>G (p.Val82Gly)
c.632T>G (p.Val211Gly)
c.244-31T>G (n.244-31T>G)
c.287T>G (p.Val96Gly)
c.254T>G (p.Val85Gly)
18g.3457367C>ACA502810301TGIF1c.186C>A (p.Val62=)
c.246C>A (p.Val82=)
c.633C>A (p.Val211=)
c.244-30C>A (n.244-30C>A)
c.288C>A (p.Val96=)
c.255C>A (p.Val85=)
18g.3457367C>GCA502810302TGIF1c.186C>G (p.Val62=)
c.246C>G (p.Val82=)
c.633C>G (p.Val211=)
c.244-30C>G (n.244-30C>G)
c.288C>G (p.Val96=)
c.255C>G (p.Val85=)
18g.3457367C>TCA502810303TGIF1c.186C>T (p.Val62=)
c.246C>T (p.Val82=)
c.633C>T (p.Val211=)
c.244-30C>T (n.244-30C>T)
c.288C>T (p.Val96=)
c.255C>T (p.Val85=)
18g.3457368T>ACA401723104TGIF1c.187T>A (p.Cys63Ser)
c.247T>A (p.Cys83Ser)
c.634T>A (p.Cys212Ser)
c.244-29T>A (n.244-29T>A)
c.289T>A (p.Cys97Ser)
c.256T>A (p.Cys86Ser)
18g.3457368T>CCA401723102TGIF1c.187T>C (p.Cys63Arg)
c.247T>C (p.Cys83Arg)
c.634T>C (p.Cys212Arg)
c.244-29T>C (n.244-29T>C)
c.289T>C (p.Cys97Arg)
c.256T>C (p.Cys86Arg)
dbSNP gnomAD v2 gnomAD v4
18g.3457368T>GCA401723103TGIF1c.187T>G (p.Cys63Gly)
c.247T>G (p.Cys83Gly)
c.634T>G (p.Cys212Gly)
c.244-29T>G (n.244-29T>G)
c.289T>G (p.Cys97Gly)
c.256T>G (p.Cys86Gly)
COSMIC COSMIC
18g.3457368T=CA2281035497TGIF1c.187T= (p.Cys63=)
c.247T= (p.Cys83=)
c.634T= (p.Cys212=)
c.244-29T= (n.244-29T=)
c.289T= (p.Cys97=)
c.256T= (p.Cys86=)
18g.3457368dupCA502810306TGIF1c.187dup (p.Cys63LeufsTer2)
c.247dup (p.Cys83LeufsTer2)
c.634dup (p.Cys212LeufsTer2)
c.244-29dup (n.244-29dup)
c.289dup (p.Cys97LeufsTer2)
c.256dup (p.Cys86LeufsTer2)
COSMIC
18g.3457369G>ACA401723105TGIF1c.188G>A (p.Cys63Tyr)
c.248G>A (p.Cys83Tyr)
c.635G>A (p.Cys212Tyr)
c.244-28G>A (n.244-28G>A)
c.290G>A (p.Cys97Tyr)
c.257G>A (p.Cys86Tyr)
dbSNP
18g.3457369G>CCA401723106TGIF1c.188G>C (p.Cys63Ser)
c.248G>C (p.Cys83Ser)
c.635G>C (p.Cys212Ser)
c.244-28G>C (n.244-28G>C)
c.290G>C (p.Cys97Ser)
c.257G>C (p.Cys86Ser)
18g.3457369G=CA2281035498TGIF1c.188G= (p.Cys63=)
c.248G= (p.Cys83=)
c.635G= (p.Cys212=)
c.244-28G= (n.244-28G=)
c.290G= (p.Cys97=)
c.257G= (p.Cys86=)
18g.3457369G>TCA401723107TGIF1c.188G>T (p.Cys63Phe)
c.248G>T (p.Cys83Phe)
c.635G>T (p.Cys212Phe)
c.244-28G>T (n.244-28G>T)
c.290G>T (p.Cys97Phe)
c.257G>T (p.Cys86Phe)
18g.3457370T>ACA401723108TGIF1c.189T>A (p.Cys63Ter)
c.249T>A (p.Cys83Ter)
c.636T>A (p.Cys212Ter)
c.244-27T>A (n.244-27T>A)
c.291T>A (p.Cys97Ter)
c.258T>A (p.Cys86Ter)
18g.3457370T>CCA502810307TGIF1c.189T>C (p.Cys63=)
c.249T>C (p.Cys83=)
c.636T>C (p.Cys212=)
c.244-27T>C (n.244-27T>C)
c.291T>C (p.Cys97=)
c.258T>C (p.Cys86=)
gnomAD v4
18g.3457370T>GCA401723109TGIF1c.189T>G (p.Cys63Trp)
c.249T>G (p.Cys83Trp)
c.636T>G (p.Cys212Trp)
c.244-27T>G (n.244-27T>G)
c.291T>G (p.Cys97Trp)
c.258T>G (p.Cys86Trp)
18g.3457371A>CCA401723110TGIF1c.190A>C (p.Asn64His)
c.250A>C (p.Asn84His)
c.637A>C (p.Asn213His)
c.244-26A>C (n.244-26A>C)
c.292A>C (p.Asn98His)
c.259A>C (p.Asn87His)
18g.3457371A>GCA401723111TGIF1c.190A>G (p.Asn64Asp)
c.250A>G (p.Asn84Asp)
c.637A>G (p.Asn213Asp)
c.244-26A>G (n.244-26A>G)
c.292A>G (p.Asn98Asp)
c.259A>G (p.Asn87Asp)
18g.3457371A>TCA401723112TGIF1c.190A>T (p.Asn64Tyr)
c.250A>T (p.Asn84Tyr)
c.637A>T (p.Asn213Tyr)
c.244-26A>T (n.244-26A>T)
c.292A>T (p.Asn98Tyr)
c.259A>T (p.Asn87Tyr)
18g.3457372A>CCA401723113TGIF1c.191A>C (p.Asn64Thr)
c.251A>C (p.Asn84Thr)
c.638A>C (p.Asn213Thr)
c.244-25A>C (n.244-25A>C)
c.293A>C (p.Asn98Thr)
c.260A>C (p.Asn87Thr)
18g.3457372A>GCA401723114TGIF1c.191A>G (p.Asn64Ser)
c.251A>G (p.Asn84Ser)
c.638A>G (p.Asn213Ser)
c.244-25A>G (n.244-25A>G)
c.293A>G (p.Asn98Ser)
c.260A>G (p.Asn87Ser)
18g.3457372A>TCA401723115TGIF1c.191A>T (p.Asn64Ile)
c.251A>T (p.Asn84Ile)
c.638A>T (p.Asn213Ile)
c.244-25A>T (n.244-25A>T)
c.293A>T (p.Asn98Ile)
c.260A>T (p.Asn87Ile)
18g.3457373delCA502810313TGIF1c.192del (p.Trp65GlyfsTer14)
c.252del (p.Trp85GlyfsTer14)
c.639del (p.Trp214GlyfsTer14)
c.244-24del (n.244-24del)
c.294del (p.Trp99GlyfsTer14)
c.261del (p.Trp88GlyfsTer14)
COSMIC COSMIC
18g.3457373C>ACA401723117TGIF1c.192C>A (p.Asn64Lys)
c.252C>A (p.Asn84Lys)
c.639C>A (p.Asn213Lys)
c.244-24C>A (n.244-24C>A)
c.294C>A (p.Asn98Lys)
c.261C>A (p.Asn87Lys)
18g.3457373C=CA2281035499TGIF1c.192C= (p.Asn64=)
c.252C= (p.Asn84=)
c.639C= (p.Asn213=)
c.244-24C= (n.244-24C=)
c.294C= (p.Asn98=)
c.261C= (p.Asn87=)
18g.3457373C>GCA401723116TGIF1c.192C>G (p.Asn64Lys)
c.252C>G (p.Asn84Lys)
c.639C>G (p.Asn213Lys)
c.244-24C>G (n.244-24C>G)
c.294C>G (p.Asn98Lys)
c.261C>G (p.Asn87Lys)
18g.3457373C>TCA502810311TGIF1c.192C>T (p.Asn64=)
c.252C>T (p.Asn84=)
c.639C>T (p.Asn213=)
c.244-24C>T (n.244-24C>T)
c.294C>T (p.Asn98=)
c.261C>T (p.Asn87=)
dbSNP
18g.3457374T>ACA401723118TGIF1c.193T>A (p.Trp65Arg)
c.253T>A (p.Trp85Arg)
c.640T>A (p.Trp214Arg)
c.244-23T>A (n.244-23T>A)
c.295T>A (p.Trp99Arg)
c.262T>A (p.Trp88Arg)
18g.3457374T>CCA401723119TGIF1c.193T>C (p.Trp65Arg)
c.253T>C (p.Trp85Arg)
c.640T>C (p.Trp214Arg)
c.244-23T>C (n.244-23T>C)
c.295T>C (p.Trp99Arg)
c.262T>C (p.Trp88Arg)
18g.3457374T>GCA401723120TGIF1c.193T>G (p.Trp65Gly)
c.253T>G (p.Trp85Gly)
c.640T>G (p.Trp214Gly)
c.244-23T>G (n.244-23T>G)
c.295T>G (p.Trp99Gly)
c.262T>G (p.Trp88Gly)
18g.3457375G>ACA401723121TGIF1c.194G>A (p.Trp65Ter)
c.254G>A (p.Trp85Ter)
c.641G>A (p.Trp214Ter)
c.244-22G>A (n.244-22G>A)
c.296G>A (p.Trp99Ter)
c.263G>A (p.Trp88Ter)
18g.3457375G>CCA401723122TGIF1c.194G>C (p.Trp65Ser)
c.254G>C (p.Trp85Ser)
c.641G>C (p.Trp214Ser)
c.244-22G>C (n.244-22G>C)
c.296G>C (p.Trp99Ser)
c.263G>C (p.Trp88Ser)
18g.3457375G>TCA401723123TGIF1c.194G>T (p.Trp65Leu)
c.254G>T (p.Trp85Leu)
c.641G>T (p.Trp214Leu)
c.244-22G>T (n.244-22G>T)
c.296G>T (p.Trp99Leu)
c.263G>T (p.Trp88Leu)
18g.3457376G>ACA401723124TGIF1c.195G>A (p.Trp65Ter)
c.255G>A (p.Trp85Ter)
c.642G>A (p.Trp214Ter)
c.244-21G>A (n.244-21G>A)
c.297G>A (p.Trp99Ter)
c.264G>A (p.Trp88Ter)
18g.3457376G>CCA401723125TGIF1c.195G>C (p.Trp65Cys)
c.255G>C (p.Trp85Cys)
c.642G>C (p.Trp214Cys)
c.244-21G>C (n.244-21G>C)
c.297G>C (p.Trp99Cys)
c.264G>C (p.Trp88Cys)
18g.3457376G>TCA401723126TGIF1c.195G>T (p.Trp65Cys)
c.255G>T (p.Trp85Cys)
c.642G>T (p.Trp214Cys)
c.244-21G>T (n.244-21G>T)
c.297G>T (p.Trp99Cys)
c.264G>T (p.Trp88Cys)
18g.3457377T>ACA401723127TGIF1c.196T>A (p.Phe66Ile)
c.256T>A (p.Phe86Ile)
c.643T>A (p.Phe215Ile)
c.244-20T>A (n.244-20T>A)
c.298T>A (p.Phe100Ile)
c.265T>A (p.Phe89Ile)
18g.3457377T>CCA295566957TGIF1c.196T>C (p.Phe66Leu)
c.256T>C (p.Phe86Leu)
c.643T>C (p.Phe215Leu)
c.244-20T>C (n.244-20T>C)
c.298T>C (p.Phe100Leu)
c.265T>C (p.Phe89Leu)
dbSNP
18g.3457377T>GCA401723128TGIF1c.196T>G (p.Phe66Val)
c.256T>G (p.Phe86Val)
c.643T>G (p.Phe215Val)
c.244-20T>G (n.244-20T>G)
c.298T>G (p.Phe100Val)
c.265T>G (p.Phe89Val)
18g.3457377T=CA2281035500TGIF1c.196T= (p.Phe66=)
c.256T= (p.Phe86=)
c.643T= (p.Phe215=)
c.244-20T= (n.244-20T=)
c.298T= (p.Phe100=)
c.265T= (p.Phe89=)
18g.3457378delCA2695200379TGIF1c.197del (p.Phe66SerfsTer13)
c.257del (p.Phe86SerfsTer13)
c.644del (p.Phe215SerfsTer13)
c.244-19del (n.244-19del)
c.299del (p.Phe100SerfsTer13)
c.266del (p.Phe89SerfsTer13)
ClinVar
18g.3457377_3457380delinsTTCACA2281035501TGIF1c.196_199delinsTTCA (p.Phe66=)
c.256_259delinsTTCA (p.Phe86=)
c.643_646delinsTTCA (p.Phe215=)
c.244-20_244-17delinsTTCA (n.244-20_244-17delinsTTCA)
c.298_301delinsTTCA (p.Phe100=)
c.265_268delinsTTCA (p.Phe89=)
18g.3457378T>ACA401723131TGIF1c.197T>A (p.Phe66Tyr)
c.257T>A (p.Phe86Tyr)
c.644T>A (p.Phe215Tyr)
c.244-19T>A (n.244-19T>A)
c.299T>A (p.Phe100Tyr)
c.266T>A (p.Phe89Tyr)
18g.3457378T>CCA401723130TGIF1c.197T>C (p.Phe66Ser)
c.257T>C (p.Phe86Ser)
c.644T>C (p.Phe215Ser)
c.244-19T>C (n.244-19T>C)
c.299T>C (p.Phe100Ser)
c.266T>C (p.Phe89Ser)
18g.3457378T>GCA401723129TGIF1c.197T>G (p.Phe66Cys)
c.257T>G (p.Phe86Cys)
c.644T>G (p.Phe215Cys)
c.244-19T>G (n.244-19T>G)
c.299T>G (p.Phe100Cys)
c.266T>G (p.Phe89Cys)
18g.3457381_3457383delCA8875921TGIF1c.200_202del (p.Ile67del)
c.260_262del (p.Ile87del)
c.647_649del (p.Ile216del)
c.244-16_244-14del (n.244-16_244-14del)
c.302_304del (p.Ile101del)
c.269_271del (p.Ile90del)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457379C>ACA401723132TGIF1c.198C>A (p.Phe66Leu)
c.258C>A (p.Phe86Leu)
c.645C>A (p.Phe215Leu)
c.244-18C>A (n.244-18C>A)
c.300C>A (p.Phe100Leu)
c.267C>A (p.Phe89Leu)
18g.3457379C>GCA401723133TGIF1c.198C>G (p.Phe66Leu)
c.258C>G (p.Phe86Leu)
c.645C>G (p.Phe215Leu)
c.244-18C>G (n.244-18C>G)
c.300C>G (p.Phe100Leu)
c.267C>G (p.Phe89Leu)
18g.3457379C>TCA502810316TGIF1c.198C>T (p.Phe66=)
c.258C>T (p.Phe86=)
c.645C>T (p.Phe215=)
c.244-18C>T (n.244-18C>T)
c.300C>T (p.Phe100=)
c.267C>T (p.Phe89=)
18g.3457380A>CCA401723134TGIF1c.199A>C (p.Ile67Leu)
c.259A>C (p.Ile87Leu)
c.646A>C (p.Ile216Leu)
c.244-17A>C (n.244-17A>C)
c.301A>C (p.Ile101Leu)
c.268A>C (p.Ile90Leu)
18g.3457380A>GCA401723135TGIF1c.199A>G (p.Ile67Val)
c.259A>G (p.Ile87Val)
c.646A>G (p.Ile216Val)
c.244-17A>G (n.244-17A>G)
c.301A>G (p.Ile101Val)
c.268A>G (p.Ile90Val)
gnomAD v4
18g.3457380A>TCA401723136TGIF1c.199A>T (p.Ile67Phe)
c.259A>T (p.Ile87Phe)
c.646A>T (p.Ile216Phe)
c.244-17A>T (n.244-17A>T)
c.301A>T (p.Ile101Phe)
c.268A>T (p.Ile90Phe)
18g.3457381T>ACA401723137TGIF1c.200T>A (p.Ile67Asn)
c.260T>A (p.Ile87Asn)
c.647T>A (p.Ile216Asn)
c.244-16T>A (n.244-16T>A)
c.302T>A (p.Ile101Asn)
c.269T>A (p.Ile90Asn)
18g.3457381T>CCA401723138TGIF1c.200T>C (p.Ile67Thr)
c.260T>C (p.Ile87Thr)
c.647T>C (p.Ile216Thr)
c.244-16T>C (n.244-16T>C)
c.302T>C (p.Ile101Thr)
c.269T>C (p.Ile90Thr)
18g.3457381T>GCA401723139TGIF1c.200T>G (p.Ile67Ser)
c.260T>G (p.Ile87Ser)
c.647T>G (p.Ile216Ser)
c.244-16T>G (n.244-16T>G)
c.302T>G (p.Ile101Ser)
c.269T>G (p.Ile90Ser)
18g.3457382C>ACA502810318TGIF1c.201C>A (p.Ile67=)
c.261C>A (p.Ile87=)
c.648C>A (p.Ile216=)
c.244-15C>A (n.244-15C>A)
c.303C>A (p.Ile101=)
c.270C>A (p.Ile90=)
18g.3457382C>GCA401723140TGIF1c.201C>G (p.Ile67Met)
c.261C>G (p.Ile87Met)
c.648C>G (p.Ile216Met)
c.244-15C>G (n.244-15C>G)
c.303C>G (p.Ile101Met)
c.270C>G (p.Ile90Met)
18g.3457382C>TCA502810320TGIF1c.201C>T (p.Ile67=)
c.261C>T (p.Ile87=)
c.648C>T (p.Ile216=)
c.244-15C>T (n.244-15C>T)
c.303C>T (p.Ile101=)
c.270C>T (p.Ile90=)
18g.3457383A>CCA401723141TGIF1c.202A>C (p.Asn68His)
c.262A>C (p.Asn88His)
c.649A>C (p.Asn217His)
c.244-14A>C (n.244-14A>C)
c.304A>C (p.Asn102His)
c.271A>C (p.Asn91His)
18g.3457383A>GCA401723142TGIF1c.202A>G (p.Asn68Asp)
c.262A>G (p.Asn88Asp)
c.649A>G (p.Asn217Asp)
c.244-14A>G (n.244-14A>G)
c.304A>G (p.Asn102Asp)
c.271A>G (p.Asn91Asp)
COSMIC
18g.3457383A>TCA401723143TGIF1c.202A>T (p.Asn68Tyr)
c.262A>T (p.Asn88Tyr)
c.649A>T (p.Asn217Tyr)
c.244-14A>T (n.244-14A>T)
c.304A>T (p.Asn102Tyr)
c.271A>T (p.Asn91Tyr)
18g.3457384A=CA2281035502TGIF1c.203A= (p.Asn68=)
c.263A= (p.Asn88=)
c.650A= (p.Asn217=)
c.244-13A= (n.244-13A=)
c.305A= (p.Asn102=)
c.272A= (p.Asn91=)
18g.3457384A>CCA401723145TGIF1c.203A>C (p.Asn68Thr)
c.263A>C (p.Asn88Thr)
c.650A>C (p.Asn217Thr)
c.244-13A>C (n.244-13A>C)
c.305A>C (p.Asn102Thr)
c.272A>C (p.Asn91Thr)
dbSNP
18g.3457384A>GCA401723146TGIF1c.203A>G (p.Asn68Ser)
c.263A>G (p.Asn88Ser)
c.650A>G (p.Asn217Ser)
c.244-13A>G (n.244-13A>G)
c.305A>G (p.Asn102Ser)
c.272A>G (p.Asn91Ser)
dbSNP gnomAD v4
18g.3457384A>TCA401723144TGIF1c.203A>T (p.Asn68Ile)
c.263A>T (p.Asn88Ile)
c.650A>T (p.Asn217Ile)
c.244-13A>T (n.244-13A>T)
c.305A>T (p.Asn102Ile)
c.272A>T (p.Asn91Ile)
18g.3457385C>ACA401723148TGIF1c.204C>A (p.Asn68Lys)
c.264C>A (p.Asn88Lys)
c.651C>A (p.Asn217Lys)
c.244-12C>A (n.244-12C>A)
c.306C>A (p.Asn102Lys)
c.273C>A (p.Asn91Lys)
18g.3457385C=CA2281035503TGIF1c.204C= (p.Asn68=)
c.264C= (p.Asn88=)
c.651C= (p.Asn217=)
c.244-12C= (n.244-12C=)
c.306C= (p.Asn102=)
c.273C= (p.Asn91=)
18g.3457385C>GCA401723147TGIF1c.204C>G (p.Asn68Lys)
c.264C>G (p.Asn88Lys)
c.651C>G (p.Asn217Lys)
c.244-12C>G (n.244-12C>G)
c.306C>G (p.Asn102Lys)
c.273C>G (p.Asn91Lys)
18g.3457385C>TCA8875922TGIF1c.204C>T (p.Asn68=)
c.264C>T (p.Asn88=)
c.651C>T (p.Asn217=)
c.244-12C>T (n.244-12C>T)
c.306C>T (p.Asn102=)
c.273C>T (p.Asn91=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457386G>ACA401723149TGIF1c.205G>A (p.Ala69Thr)
c.265G>A (p.Ala89Thr)
c.652G>A (p.Ala218Thr)
c.244-11G>A (n.244-11G>A)
c.307G>A (p.Ala103Thr)
c.274G>A (p.Ala92Thr)
gnomAD v4
18g.3457386G>CCA401723150TGIF1c.205G>C (p.Ala69Pro)
c.265G>C (p.Ala89Pro)
c.652G>C (p.Ala218Pro)
c.244-11G>C (n.244-11G>C)
c.307G>C (p.Ala103Pro)
c.274G>C (p.Ala92Pro)
dbSNP
18g.3457386G=CA2281035504TGIF1c.205G= (p.Ala69=)
c.265G= (p.Ala89=)
c.652G= (p.Ala218=)
c.244-11G= (n.244-11G=)
c.307G= (p.Ala103=)
c.274G= (p.Ala92=)
18g.3457386G>TCA401723151TGIF1c.205G>T (p.Ala69Ser)
c.265G>T (p.Ala89Ser)
c.652G>T (p.Ala218Ser)
c.244-11G>T (n.244-11G>T)
c.307G>T (p.Ala103Ser)
c.274G>T (p.Ala92Ser)
gnomAD v4 COSMIC COSMIC
18g.3457387C>ACA401723152TGIF1c.206C>A (p.Ala69Asp)
c.266C>A (p.Ala89Asp)
c.653C>A (p.Ala218Asp)
c.244-10C>A (n.244-10C>A)
c.308C>A (p.Ala103Asp)
c.275C>A (p.Ala92Asp)
18g.3457387C>GCA401723153TGIF1c.206C>G (p.Ala69Gly)
c.266C>G (p.Ala89Gly)
c.653C>G (p.Ala218Gly)
c.244-10C>G (n.244-10C>G)
c.308C>G (p.Ala103Gly)
c.275C>G (p.Ala92Gly)
gnomAD v4
18g.3457387C>TCA401723154TGIF1c.206C>T (p.Ala69Val)
c.266C>T (p.Ala89Val)
c.653C>T (p.Ala218Val)
c.244-10C>T (n.244-10C>T)
c.308C>T (p.Ala103Val)
c.275C>T (p.Ala92Val)
18g.3457388C>ACA502810328TGIF1c.207C>A (p.Ala69=)
c.267C>A (p.Ala89=)
c.654C>A (p.Ala218=)
c.244-9C>A (n.244-9C>A)
c.309C>A (p.Ala103=)
c.276C>A (p.Ala92=)
18g.3457388C>GCA502810330TGIF1c.207C>G (p.Ala69=)
c.267C>G (p.Ala89=)
c.654C>G (p.Ala218=)
c.244-9C>G (n.244-9C>G)
c.309C>G (p.Ala103=)
c.276C>G (p.Ala92=)
dbSNP
18g.3457388C>TCA502810331TGIF1c.207C>T (p.Ala69=)
c.267C>T (p.Ala89=)
c.654C>T (p.Ala218=)
c.244-9C>T (n.244-9C>T)
c.309C>T (p.Ala103=)
c.276C>T (p.Ala92=)
18g.3457389C>ACA401723155TGIF1c.208C>A (p.Arg70Ser)
c.268C>A (p.Arg90Ser)
c.655C>A (p.Arg219Ser)
c.244-8C>A (n.244-8C>A)
c.310C>A (p.Arg104Ser)
c.277C>A (p.Arg93Ser)
COSMIC COSMIC
18g.3457389C=CA2281035505TGIF1c.208C= (p.Arg70=)
c.268C= (p.Arg90=)
c.655C= (p.Arg219=)
c.244-8C= (n.244-8C=)
c.310C= (p.Arg104=)
c.277C= (p.Arg93=)
18g.3457389C>GCA401723156TGIF1c.208C>G (p.Arg70Gly)
c.268C>G (p.Arg90Gly)
c.655C>G (p.Arg219Gly)
c.244-8C>G (n.244-8C>G)
c.310C>G (p.Arg104Gly)
c.277C>G (p.Arg93Gly)
18g.3457389C>TCA401723157TGIF1c.208C>T (p.Arg70Cys)
c.268C>T (p.Arg90Cys)
c.655C>T (p.Arg219Cys)
c.244-8C>T (n.244-8C>T)
c.310C>T (p.Arg104Cys)
c.277C>T (p.Arg93Cys)
ClinVar dbSNP gnomAD v4
18g.3457390G>ACA16043061TGIF1c.209G>A (p.Arg70His)
c.269G>A (p.Arg90His)
c.656G>A (p.Arg219His)
c.244-7G>A (n.244-7G>A)
c.311G>A (p.Arg104His)
c.278G>A (p.Arg93His)
ClinVar dbSNP gnomAD v4
18g.3457390G>CCA401723159TGIF1c.209G>C (p.Arg70Pro)
c.269G>C (p.Arg90Pro)
c.656G>C (p.Arg219Pro)
c.244-7G>C (n.244-7G>C)
c.311G>C (p.Arg104Pro)
c.278G>C (p.Arg93Pro)
18g.3457390G=CA2281035506TGIF1c.209G= (p.Arg70=)
c.269G= (p.Arg90=)
c.656G= (p.Arg219=)
c.244-7G= (n.244-7G=)
c.311G= (p.Arg104=)
c.278G= (p.Arg93=)
18g.3457390G>TCA401723158TGIF1c.209G>T (p.Arg70Leu)
c.269G>T (p.Arg90Leu)
c.656G>T (p.Arg219Leu)
c.244-7G>T (n.244-7G>T)
c.311G>T (p.Arg104Leu)
c.278G>T (p.Arg93Leu)
18g.3457391C>ACA502810334TGIF1c.210C>A (p.Arg70=)
c.270C>A (p.Arg90=)
c.657C>A (p.Arg219=)
c.244-6C>A (n.244-6C>A)
c.312C>A (p.Arg104=)
c.279C>A (p.Arg93=)
18g.3457391C=CA2281035507TGIF1c.210C= (p.Arg70=)
c.270C= (p.Arg90=)
c.657C= (p.Arg219=)
c.244-6C= (n.244-6C=)
c.312C= (p.Arg104=)
c.279C= (p.Arg93=)
18g.3457391C>GCA502810336TGIF1c.210C>G (p.Arg70=)
c.270C>G (p.Arg90=)
c.657C>G (p.Arg219=)
c.244-6C>G (n.244-6C>G)
c.312C>G (p.Arg104=)
c.279C>G (p.Arg93=)
18g.3457391C>TCA502810337TGIF1c.210C>T (p.Arg70=)
c.270C>T (p.Arg90=)
c.657C>T (p.Arg219=)
c.244-6C>T (n.244-6C>T)
c.312C>T (p.Arg104=)
c.279C>T (p.Arg93=)
dbSNP gnomAD v4
18g.3457392C>ACA401723160TGIF1c.211C>A (p.Arg71Ser)
c.271C>A (p.Arg91Ser)
c.658C>A (p.Arg220Ser)
c.244-5C>A (n.244-5C>A)
c.313C>A (p.Arg105Ser)
c.280C>A (p.Arg94Ser)
COSMIC COSMIC
18g.3457392C=CA2281035508TGIF1c.211C= (p.Arg71=)
c.271C= (p.Arg91=)
c.658C= (p.Arg220=)
c.244-5C= (n.244-5C=)
c.313C= (p.Arg105=)
c.280C= (p.Arg94=)
18g.3457392C>GCA401723161TGIF1c.211C>G (p.Arg71Gly)
c.271C>G (p.Arg91Gly)
c.658C>G (p.Arg220Gly)
c.244-5C>G (n.244-5C>G)
c.313C>G (p.Arg105Gly)
c.280C>G (p.Arg94Gly)
COSMIC COSMIC
18g.3457392C>TCA401723162TGIF1c.211C>T (p.Arg71Cys)
c.271C>T (p.Arg91Cys)
c.658C>T (p.Arg220Cys)
c.244-5C>T (n.244-5C>T)
c.313C>T (p.Arg105Cys)
c.280C>T (p.Arg94Cys)
ClinVar dbSNP gnomAD v2 gnomAD v4
18g.3457393G>ACA295566973TGIF1c.212G>A (p.Arg71His)
c.272G>A (p.Arg91His)
c.659G>A (p.Arg220His)
c.244-4G>A (n.244-4G>A)
c.314G>A (p.Arg105His)
c.281G>A (p.Arg94His)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.3457393G>CCA401723163TGIF1c.212G>C (p.Arg71Pro)
c.272G>C (p.Arg91Pro)
c.659G>C (p.Arg220Pro)
c.244-4G>C (n.244-4G>C)
c.314G>C (p.Arg105Pro)
c.281G>C (p.Arg94Pro)
18g.3457393G=CA2281035509TGIF1c.212G= (p.Arg71=)
c.272G= (p.Arg91=)
c.659G= (p.Arg220=)
c.244-4G= (n.244-4G=)
c.314G= (p.Arg105=)
c.281G= (p.Arg94=)
18g.3457393G>TCA401723164TGIF1c.212G>T (p.Arg71Leu)
c.272G>T (p.Arg91Leu)
c.659G>T (p.Arg220Leu)
c.244-4G>T (n.244-4G>T)
c.314G>T (p.Arg105Leu)
c.281G>T (p.Arg94Leu)
18g.3457394C>ACA502810338TGIF1c.213C>A (p.Arg71=)
c.273C>A (p.Arg91=)
c.660C>A (p.Arg220=)
c.244-3C>A (n.244-3C>A)
c.315C>A (p.Arg105=)
c.282C>A (p.Arg94=)
18g.3457394C>GCA502810340TGIF1c.213C>G (p.Arg71=)
c.273C>G (p.Arg91=)
c.660C>G (p.Arg220=)
c.244-3C>G (n.244-3C>G)
c.315C>G (p.Arg105=)
c.282C>G (p.Arg94=)
18g.3457394C>TCA502810342TGIF1c.213C>T (p.Arg71=)
c.273C>T (p.Arg91=)
c.660C>T (p.Arg220=)
c.244-3C>T (n.244-3C>T)
c.315C>T (p.Arg105=)
c.282C>T (p.Arg94=)
gnomAD v4
18g.3457395A>CCA401723165TGIF1c.214A>C (p.Arg72=)
c.274A>C (p.Arg92=)
c.661A>C (p.Arg221=)
c.244-2A>C (n.244-2A>C)
c.316A>C (p.Arg106=)
c.283A>C (p.Arg95=)
18g.3457395A>GCA401723166TGIF1c.214A>G (p.Arg72Gly)
c.274A>G (p.Arg92Gly)
c.661A>G (p.Arg221Gly)
c.244-2A>G (n.244-2A>G)
c.316A>G (p.Arg106Gly)
c.283A>G (p.Arg95Gly)
18g.3457395A>TCA401723167TGIF1c.214A>T (p.Arg72Trp)
c.274A>T (p.Arg92Trp)
c.661A>T (p.Arg221Trp)
c.244-2A>T (n.244-2A>T)
c.316A>T (p.Arg106Trp)
c.283A>T (p.Arg95Trp)
18g.3457396G>ACA401723168TGIF1c.215G>A (p.Arg72Lys)
c.275G>A (p.Arg92Lys)
c.662G>A (p.Arg221Lys)
c.244-1G>A (n.244-1G>A)
c.317G>A (p.Arg106Lys)
c.284G>A (p.Arg95Lys)
18g.3457396G>CCA401723169TGIF1c.215G>C (p.Arg72Thr)
c.275G>C (p.Arg92Thr)
c.662G>C (p.Arg221Thr)
c.244-1G>C (n.244-1G>C)
c.317G>C (p.Arg106Thr)
c.284G>C (p.Arg95Thr)
18g.3457396G>TCA401723170TGIF1c.215G>T (p.Arg72Met)
c.275G>T (p.Arg92Met)
c.662G>T (p.Arg221Met)
c.244-1G>T (n.244-1G>T)
c.317G>T (p.Arg106Met)
c.284G>T (p.Arg95Met)
18g.3457397G>ACA401723172TGIF1c.216G>A (p.Arg72=)
c.276G>A (p.Arg92=)
c.663G>A (p.Arg221=)
c.244G>A (p.Ala82Thr)
c.318G>A (p.Arg106=)
c.285G>A (p.Arg95=)
18g.3457397G>CCA401723173TGIF1c.216G>C (p.Arg72Ser)
c.276G>C (p.Arg92Ser)
c.663G>C (p.Arg221Ser)
c.244G>C (p.Ala82Pro)
c.318G>C (p.Arg106Ser)
c.285G>C (p.Arg95Ser)
18g.3457397G>TCA401723171TGIF1c.216G>T (p.Arg72Ser)
c.276G>T (p.Arg92Ser)
c.663G>T (p.Arg221Ser)
c.244G>T (p.Ala82Ser)
c.318G>T (p.Arg106Ser)
c.285G>T (p.Arg95Ser)
18g.3457398C>ACA401723174TGIF1c.217C>A (p.Leu73Ile)
c.277C>A (p.Leu93Ile)
c.664C>A (p.Leu222Ile)
c.245C>A (p.Ala82Asp)
c.319C>A (p.Leu107Ile)
c.286C>A (p.Leu96Ile)
18g.3457398C>GCA401723175TGIF1c.217C>G (p.Leu73Val)
c.277C>G (p.Leu93Val)
c.664C>G (p.Leu222Val)
c.245C>G (p.Ala82Gly)
c.319C>G (p.Leu107Val)
c.286C>G (p.Leu96Val)
dbSNP gnomAD v3 gnomAD v4
18g.3457398C>TCA401723176TGIF1c.217C>T (p.Leu73Phe)
c.277C>T (p.Leu93Phe)
c.664C>T (p.Leu222Phe)
c.245C>T (p.Ala82Val)
c.319C>T (p.Leu107Phe)
c.286C>T (p.Leu96Phe)
18g.3457399T>ACA401723177TGIF1c.218T>A (p.Leu73His)
c.278T>A (p.Leu93His)
c.665T>A (p.Leu222His)
c.246T>A (p.Ala82=)
c.320T>A (p.Leu107His)
c.287T>A (p.Leu96His)
18g.3457399T>CCA401723178TGIF1c.218T>C (p.Leu73Pro)
c.278T>C (p.Leu93Pro)
c.665T>C (p.Leu222Pro)
c.246T>C (p.Ala82=)
c.320T>C (p.Leu107Pro)
c.287T>C (p.Leu96Pro)
18g.3457399T>GCA401723179TGIF1c.218T>G (p.Leu73Arg)
c.278T>G (p.Leu93Arg)
c.665T>G (p.Leu222Arg)
c.246T>G (p.Ala82=)
c.320T>G (p.Leu107Arg)
c.287T>G (p.Leu96Arg)
18g.3457400C>ACA401723180TGIF1c.219C>A (p.Leu73=)
c.279C>A (p.Leu93=)
c.666C>A (p.Leu222=)
c.247C>A (p.Pro83Thr)
c.321C>A (p.Leu107=)
c.288C>A (p.Leu96=)
18g.3457400C=CA2281035510TGIF1c.219C= (p.Leu73=)
c.279C= (p.Leu93=)
c.666C= (p.Leu222=)
c.247C= (p.Pro83=)
c.321C= (p.Leu107=)
c.288C= (p.Leu96=)
18g.3457400C>GCA401723181TGIF1c.219C>G (p.Leu73=)
c.279C>G (p.Leu93=)
c.666C>G (p.Leu222=)
c.247C>G (p.Pro83Ala)
c.321C>G (p.Leu107=)
c.288C>G (p.Leu96=)
18g.3457400C>TCA8875923TGIF1c.219C>T (p.Leu73=)
c.279C>T (p.Leu93=)
c.666C>T (p.Leu222=)
c.247C>T (p.Pro83Ser)
c.321C>T (p.Leu107=)
c.288C>T (p.Leu96=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457401C>ACA401723182TGIF1c.220C>A (p.Leu74Ile)
c.280C>A (p.Leu94Ile)
c.667C>A (p.Leu223Ile)
c.248C>A (p.Pro83His)
c.322C>A (p.Leu108Ile)
c.289C>A (p.Leu97Ile)
18g.3457401C>GCA401723183TGIF1c.220C>G (p.Leu74Val)
c.280C>G (p.Leu94Val)
c.667C>G (p.Leu223Val)
c.248C>G (p.Pro83Arg)
c.322C>G (p.Leu108Val)
c.289C>G (p.Leu97Val)
18g.3457401C>TCA401723184TGIF1c.220C>T (p.Leu74Phe)
c.280C>T (p.Leu94Phe)
c.667C>T (p.Leu223Phe)
c.248C>T (p.Pro83Leu)
c.322C>T (p.Leu108Phe)
c.289C>T (p.Leu97Phe)
gnomAD v4
18g.3457402T>ACA401723186TGIF1c.221T>A (p.Leu74His)
c.281T>A (p.Leu94His)
c.668T>A (p.Leu223His)
c.249T>A (p.Pro83=)
c.323T>A (p.Leu108His)
c.290T>A (p.Leu97His)
18g.3457402T>CCA401723187TGIF1c.221T>C (p.Leu74Pro)
c.281T>C (p.Leu94Pro)
c.668T>C (p.Leu223Pro)
c.249T>C (p.Pro83=)
c.323T>C (p.Leu108Pro)
c.290T>C (p.Leu97Pro)
18g.3457402T>GCA401723185TGIF1c.221T>G (p.Leu74Arg)
c.281T>G (p.Leu94Arg)
c.668T>G (p.Leu223Arg)
c.249T>G (p.Pro83=)
c.323T>G (p.Leu108Arg)
c.290T>G (p.Leu97Arg)
18g.3457403C>ACA401723188TGIF1c.222C>A (p.Leu74=)
c.282C>A (p.Leu94=)
c.669C>A (p.Leu223=)
c.250C>A (p.Pro84Thr)
c.324C>A (p.Leu108=)
c.291C>A (p.Leu97=)
18g.3457403C>GCA401723189TGIF1c.222C>G (p.Leu74=)
c.282C>G (p.Leu94=)
c.669C>G (p.Leu223=)
c.250C>G (p.Pro84Ala)
c.324C>G (p.Leu108=)
c.291C>G (p.Leu97=)
18g.3457403C>TCA401723190TGIF1c.222C>T (p.Leu74=)
c.282C>T (p.Leu94=)
c.669C>T (p.Leu223=)
c.250C>T (p.Pro84Ser)
c.324C>T (p.Leu108=)
c.291C>T (p.Leu97=)
18g.3457404C>ACA401723191TGIF1c.223C>A (p.Pro75Thr)
c.283C>A (p.Pro95Thr)
c.670C>A (p.Pro224Thr)
c.251C>A (p.Pro84His)
c.325C>A (p.Pro109Thr)
c.292C>A (p.Pro98Thr)
18g.3457404C>GCA401723192TGIF1c.223C>G (p.Pro75Ala)
c.283C>G (p.Pro95Ala)
c.670C>G (p.Pro224Ala)
c.251C>G (p.Pro84Arg)
c.325C>G (p.Pro109Ala)
c.292C>G (p.Pro98Ala)
18g.3457404C>TCA401723193TGIF1c.223C>T (p.Pro75Ser)
c.283C>T (p.Pro95Ser)
c.670C>T (p.Pro224Ser)
c.251C>T (p.Pro84Leu)
c.325C>T (p.Pro109Ser)
c.292C>T (p.Pro98Ser)
18g.3457405C>ACA401723196TGIF1c.224C>A (p.Pro75His)
c.284C>A (p.Pro95His)
c.671C>A (p.Pro224His)
c.252C>A (p.Pro84=)
c.326C>A (p.Pro109His)
c.293C>A (p.Pro98His)
18g.3457405C>GCA401723194TGIF1c.224C>G (p.Pro75Arg)
c.284C>G (p.Pro95Arg)
c.671C>G (p.Pro224Arg)
c.252C>G (p.Pro84=)
c.326C>G (p.Pro109Arg)
c.293C>G (p.Pro98Arg)
18g.3457405C>TCA401723195TGIF1c.224C>T (p.Pro75Leu)
c.284C>T (p.Pro95Leu)
c.671C>T (p.Pro224Leu)
c.252C>T (p.Pro84=)
c.326C>T (p.Pro109Leu)
c.293C>T (p.Pro98Leu)
18g.3457406T>ACA401723197TGIF1c.225T>A (p.Pro75=)
c.285T>A (p.Pro95=)
c.672T>A (p.Pro224=)
c.253T>A (p.Ter85Arg)
c.327T>A (p.Pro109=)
c.294T>A (p.Pro98=)
18g.3457406T>CCA401723198TGIF1c.225T>C (p.Pro75=)
c.285T>C (p.Pro95=)
c.672T>C (p.Pro224=)
c.253T>C (p.Ter85Arg)
c.327T>C (p.Pro109=)
c.294T>C (p.Pro98=)
18g.3457406T>GCA401723199TGIF1c.225T>G (p.Pro75=)
c.285T>G (p.Pro95=)
c.672T>G (p.Pro224=)
c.253T>G (p.Ter85Gly)
c.327T>G (p.Pro109=)
c.294T>G (p.Pro98=)
18g.3457407G>ACA8875924TGIF1c.226G>A (p.Asp76Asn)
c.286G>A (p.Asp96Asn)
c.673G>A (p.Asp225Asn)
c.254G>A (p.Ter85=)
c.328G>A (p.Asp110Asn)
c.295G>A (p.Asp99Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457407G>CCA401723200TGIF1c.226G>C (p.Asp76His)
c.286G>C (p.Asp96His)
c.673G>C (p.Asp225His)
c.254G>C (p.Ter85Ser)
c.328G>C (p.Asp110His)
c.295G>C (p.Asp99His)
gnomAD v4
18g.3457407G=CA2281035511TGIF1c.226G= (p.Asp76=)
c.286G= (p.Asp96=)
c.673G= (p.Asp225=)
c.254G= (p.Ter85=)
c.328G= (p.Asp110=)
c.295G= (p.Asp99=)
18g.3457407G>TCA401723201TGIF1c.226G>T (p.Asp76Tyr)
c.286G>T (p.Asp96Tyr)
c.673G>T (p.Asp225Tyr)
c.254G>T (p.Ter85Leu)
c.328G>T (p.Asp110Tyr)
c.295G>T (p.Asp99Tyr)
18g.3457408A>CCA401723203TGIF1c.227A>C (p.Asp76Ala)
c.287A>C (p.Asp96Ala)
c.674A>C (p.Asp225Ala)
c.255A>C (p.Ter85Cys)
c.329A>C (p.Asp110Ala)
c.296A>C (p.Asp99Ala)
18g.3457408A>GCA401723204TGIF1c.227A>G (p.Asp76Gly)
c.287A>G (p.Asp96Gly)
c.674A>G (p.Asp225Gly)
c.255A>G (p.Ter85Trp)
c.329A>G (p.Asp110Gly)
c.296A>G (p.Asp99Gly)
18g.3457408A>TCA401723202TGIF1c.227A>T (p.Asp76Val)
c.287A>T (p.Asp96Val)
c.674A>T (p.Asp225Val)
c.255A>T (p.Ter85Cys)
c.329A>T (p.Asp110Val)
c.296A>T (p.Asp99Val)
18g.3457409C>ACA401723206TGIF1c.228C>A (p.Asp76Glu)
c.288C>A (p.Asp96Glu)
c.675C>A (p.Asp225Glu)
c.*1C>A (n.*1C>A)
c.330C>A (p.Asp110Glu)
c.297C>A (p.Asp99Glu)
18g.3457409C>GCA401723205TGIF1c.228C>G (p.Asp76Glu)
c.288C>G (p.Asp96Glu)
c.675C>G (p.Asp225Glu)
c.*1C>G (n.*1C>G)
c.330C>G (p.Asp110Glu)
c.297C>G (p.Asp99Glu)
18g.3457409C>TCA502810352TGIF1c.228C>T (p.Asp76=)
c.288C>T (p.Asp96=)
c.675C>T (p.Asp225=)
c.*1C>T (n.*1C>T)
c.330C>T (p.Asp110=)
c.297C>T (p.Asp99=)
ClinVar dbSNP gnomAD v4
18g.3457410A=CA2281035512TGIF1c.229A= (p.Met77=)
c.289A= (p.Met97=)
c.676A= (p.Met226=)
c.*2A= (n.*2A=)
c.331A= (p.Met111=)
c.298A= (p.Met100=)
18g.3457410A>CCA401723207TGIF1c.229A>C (p.Met77Leu)
c.289A>C (p.Met97Leu)
c.676A>C (p.Met226Leu)
c.*2A>C (n.*2A>C)
c.331A>C (p.Met111Leu)
c.298A>C (p.Met100Leu)
18g.3457410A>GCA8875925TGIF1c.229A>G (p.Met77Val)
c.289A>G (p.Met97Val)
c.676A>G (p.Met226Val)
c.*2A>G (n.*2A>G)
c.331A>G (p.Met111Val)
c.298A>G (p.Met100Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457410A>TCA401723208TGIF1c.229A>T (p.Met77Leu)
c.289A>T (p.Met97Leu)
c.676A>T (p.Met226Leu)
c.*2A>T (n.*2A>T)
c.331A>T (p.Met111Leu)
c.298A>T (p.Met100Leu)
dbSNP gnomAD v2 gnomAD v4
18g.3457411T>ACA401723209TGIF1c.230T>A (p.Met77Lys)
c.290T>A (p.Met97Lys)
c.677T>A (p.Met226Lys)
c.*3T>A (n.*3T>A)
c.332T>A (p.Met111Lys)
c.299T>A (p.Met100Lys)
18g.3457411T>CCA401723210TGIF1c.230T>C (p.Met77Thr)
c.290T>C (p.Met97Thr)
c.677T>C (p.Met226Thr)
c.*3T>C (n.*3T>C)
c.332T>C (p.Met111Thr)
c.299T>C (p.Met100Thr)
gnomAD v4
18g.3457411T>GCA401723211TGIF1c.230T>G (p.Met77Arg)
c.290T>G (p.Met97Arg)
c.677T>G (p.Met226Arg)
c.*3T>G (n.*3T>G)
c.332T>G (p.Met111Arg)
c.299T>G (p.Met100Arg)
18g.3457412G>ACA401723212TGIF1c.231G>A (p.Met77Ile)
c.291G>A (p.Met97Ile)
c.678G>A (p.Met226Ile)
c.*4G>A (n.*4G>A)
c.333G>A (p.Met111Ile)
c.300G>A (p.Met100Ile)
ClinVar gnomAD v4
18g.3457412G>CCA401723213TGIF1c.231G>C (p.Met77Ile)
c.291G>C (p.Met97Ile)
c.678G>C (p.Met226Ile)
c.*4G>C (n.*4G>C)
c.333G>C (p.Met111Ile)
c.300G>C (p.Met100Ile)
18g.3457412G>TCA401723214TGIF1c.231G>T (p.Met77Ile)
c.291G>T (p.Met97Ile)
c.678G>T (p.Met226Ile)
c.*4G>T (n.*4G>T)
c.333G>T (p.Met111Ile)
c.300G>T (p.Met100Ile)
18g.3457412dupCA2640853005TGIF1c.231dup (p.Leu78AlafsTer22)
c.291dup (p.Leu98AlafsTer22)
c.678dup (p.Leu227AlafsTer22)
c.291dup (p.Leu98AlafsTer?)
c.231dup (p.Leu78AlafsTer?)
c.*4dup (n.*4dup)
c.333dup (p.Leu112AlafsTer22)
c.300dup (p.Leu101AlafsTer22)
gnomAD v4
18g.3457413C>ACA401723215TGIF1c.232C>A (p.Leu78Met)
c.292C>A (p.Leu98Met)
c.679C>A (p.Leu227Met)
c.*5C>A (n.*5C>A)
c.334C>A (p.Leu112Met)
c.301C>A (p.Leu101Met)
18g.3457413C>GCA401723216TGIF1c.232C>G (p.Leu78Val)
c.292C>G (p.Leu98Val)
c.679C>G (p.Leu227Val)
c.*5C>G (n.*5C>G)
c.334C>G (p.Leu112Val)
c.301C>G (p.Leu101Val)
18g.3457413C>TCA502810354TGIF1c.232C>T (p.Leu78=)
c.292C>T (p.Leu98=)
c.679C>T (p.Leu227=)
c.*5C>T (n.*5C>T)
c.334C>T (p.Leu112=)
c.301C>T (p.Leu101=)
18g.3457414T>ACA401723219TGIF1c.233T>A (p.Leu78Gln)
c.293T>A (p.Leu98Gln)
c.680T>A (p.Leu227Gln)
c.*6T>A (n.*6T>A)
c.335T>A (p.Leu112Gln)
c.302T>A (p.Leu101Gln)
18g.3457414T>CCA401723218TGIF1c.233T>C (p.Leu78Pro)
c.293T>C (p.Leu98Pro)
c.680T>C (p.Leu227Pro)
c.*6T>C (n.*6T>C)
c.335T>C (p.Leu112Pro)
c.302T>C (p.Leu101Pro)
18g.3457414T>GCA401723217TGIF1c.233T>G (p.Leu78Arg)
c.293T>G (p.Leu98Arg)
c.680T>G (p.Leu227Arg)
c.*6T>G (n.*6T>G)
c.335T>G (p.Leu112Arg)
c.302T>G (p.Leu101Arg)
18g.3457415G>ACA502810355TGIF1c.234G>A (p.Leu78=)
c.294G>A (p.Leu98=)
c.681G>A (p.Leu227=)
c.*7G>A (n.*7G>A)
c.336G>A (p.Leu112=)
c.303G>A (p.Leu101=)
gnomAD v4
18g.3457415G>CCA502810356TGIF1c.234G>C (p.Leu78=)
c.294G>C (p.Leu98=)
c.681G>C (p.Leu227=)
c.*7G>C (n.*7G>C)
c.336G>C (p.Leu112=)
c.303G>C (p.Leu101=)
18g.3457415G>TCA502810358TGIF1c.234G>T (p.Leu78=)
c.294G>T (p.Leu98=)
c.681G>T (p.Leu227=)
c.*7G>T (n.*7G>T)
c.336G>T (p.Leu112=)
c.303G>T (p.Leu101=)
18g.3457416A>CCA502810360TGIF1c.235A>C (p.Arg79=)
c.295A>C (p.Arg99=)
c.682A>C (p.Arg228=)
c.*8A>C (n.*8A>C)
c.337A>C (p.Arg113=)
c.304A>C (p.Arg102=)
18g.3457416A>GCA401723220TGIF1c.235A>G (p.Arg79Gly)
c.295A>G (p.Arg99Gly)
c.682A>G (p.Arg228Gly)
c.*8A>G (n.*8A>G)
c.337A>G (p.Arg113Gly)
c.304A>G (p.Arg102Gly)
gnomAD v4
18g.3457416A>TCA401723221TGIF1c.235A>T (p.Arg79Ter)
c.295A>T (p.Arg99Ter)
c.682A>T (p.Arg228Ter)
c.*8A>T (n.*8A>T)
c.337A>T (p.Arg113Ter)
c.304A>T (p.Arg102Ter)
18g.3457417G>ACA401723222TGIF1c.236G>A (p.Arg79Lys)
c.296G>A (p.Arg99Lys)
c.683G>A (p.Arg228Lys)
c.*9G>A (n.*9G>A)
c.338G>A (p.Arg113Lys)
c.305G>A (p.Arg102Lys)
18g.3457417G>CCA401723223TGIF1c.236G>C (p.Arg79Thr)
c.296G>C (p.Arg99Thr)
c.683G>C (p.Arg228Thr)
c.*9G>C (n.*9G>C)
c.338G>C (p.Arg113Thr)
c.305G>C (p.Arg102Thr)
18g.3457417G>TCA401723224TGIF1c.236G>T (p.Arg79Ile)
c.296G>T (p.Arg99Ile)
c.683G>T (p.Arg228Ile)
c.*9G>T (n.*9G>T)
c.338G>T (p.Arg113Ile)
c.305G>T (p.Arg102Ile)
COSMIC COSMIC
18g.3457418A>CCA401723225TGIF1c.237A>C (p.Arg79Ser)
c.297A>C (p.Arg99Ser)
c.684A>C (p.Arg228Ser)
c.*10A>C (n.*10A>C)
c.339A>C (p.Arg113Ser)
c.306A>C (p.Arg102Ser)
18g.3457418A>GCA502810362TGIF1c.237A>G (p.Arg79=)
c.297A>G (p.Arg99=)
c.684A>G (p.Arg228=)
c.*10A>G (n.*10A>G)
c.339A>G (p.Arg113=)
c.306A>G (p.Arg102=)
18g.3457418A>TCA401723226TGIF1c.237A>T (p.Arg79Ser)
c.297A>T (p.Arg99Ser)
c.684A>T (p.Arg228Ser)
c.*10A>T (n.*10A>T)
c.339A>T (p.Arg113Ser)
c.306A>T (p.Arg102Ser)
18g.3457419A=CA2281035513TGIF1c.238A= (p.Lys80=)
c.298A= (p.Lys100=)
c.685A= (p.Lys229=)
c.*11A= (n.*11A=)
c.340A= (p.Lys114=)
c.307A= (p.Lys103=)
18g.3457419A>CCA401723227TGIF1c.238A>C (p.Lys80Gln)
c.298A>C (p.Lys100Gln)
c.685A>C (p.Lys229Gln)
c.*11A>C (n.*11A>C)
c.340A>C (p.Lys114Gln)
c.307A>C (p.Lys103Gln)
18g.3457419A>GCA8875926TGIF1c.238A>G (p.Lys80Glu)
c.298A>G (p.Lys100Glu)
c.685A>G (p.Lys229Glu)
c.*11A>G (n.*11A>G)
c.340A>G (p.Lys114Glu)
c.307A>G (p.Lys103Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457419A>TCA401723228TGIF1c.238A>T (p.Lys80Ter)
c.298A>T (p.Lys100Ter)
c.685A>T (p.Lys229Ter)
c.*11A>T (n.*11A>T)
c.340A>T (p.Lys114Ter)
c.307A>T (p.Lys103Ter)
18g.3457420A=CA2281035514TGIF1c.239A= (p.Lys80=)
c.299A= (p.Lys100=)
c.686A= (p.Lys229=)
c.*12A= (n.*12A=)
c.341A= (p.Lys114=)
c.308A= (p.Lys103=)
18g.3457420A>CCA401723229TGIF1c.239A>C (p.Lys80Thr)
c.299A>C (p.Lys100Thr)
c.686A>C (p.Lys229Thr)
c.*12A>C (n.*12A>C)
c.341A>C (p.Lys114Thr)
c.308A>C (p.Lys103Thr)
dbSNP gnomAD v3 gnomAD v4
18g.3457420A>GCA8875927TGIF1c.239A>G (p.Lys80Arg)
c.299A>G (p.Lys100Arg)
c.686A>G (p.Lys229Arg)
c.*12A>G (n.*12A>G)
c.341A>G (p.Lys114Arg)
c.308A>G (p.Lys103Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457420A>TCA401723230TGIF1c.239A>T (p.Lys80Met)
c.299A>T (p.Lys100Met)
c.686A>T (p.Lys229Met)
c.*12A>T (n.*12A>T)
c.341A>T (p.Lys114Met)
c.308A>T (p.Lys103Met)
18g.3457421G>ACA502810364TGIF1c.240G>A (p.Lys80=)
c.300G>A (p.Lys100=)
c.687G>A (p.Lys229=)
c.*13G>A (n.*13G>A)
c.342G>A (p.Lys114=)
c.309G>A (p.Lys103=)
COSMIC COSMIC
18g.3457421G>CCA401723232TGIF1c.240G>C (p.Lys80Asn)
c.300G>C (p.Lys100Asn)
c.687G>C (p.Lys229Asn)
c.*13G>C (n.*13G>C)
c.342G>C (p.Lys114Asn)
c.309G>C (p.Lys103Asn)
18g.3457421G>TCA401723231TGIF1c.240G>T (p.Lys80Asn)
c.300G>T (p.Lys100Asn)
c.687G>T (p.Lys229Asn)
c.*13G>T (n.*13G>T)
c.342G>T (p.Lys114Asn)
c.309G>T (p.Lys103Asn)
18g.3457422G>ACA401723233TGIF1c.241G>A (p.Asp81Asn)
c.301G>A (p.Asp101Asn)
c.688G>A (p.Asp230Asn)
c.*14G>A (n.*14G>A)
c.343G>A (p.Asp115Asn)
c.310G>A (p.Asp104Asn)
dbSNP gnomAD v3 gnomAD v4
18g.3457422G>CCA401723234TGIF1c.241G>C (p.Asp81His)
c.301G>C (p.Asp101His)
c.688G>C (p.Asp230His)
c.*14G>C (n.*14G>C)
c.343G>C (p.Asp115His)
c.310G>C (p.Asp104His)
18g.3457422G=CA2281035515TGIF1c.241G= (p.Asp81=)
c.301G= (p.Asp101=)
c.688G= (p.Asp230=)
c.*14G= (n.*14G=)
c.343G= (p.Asp115=)
c.310G= (p.Asp104=)
18g.3457422G>TCA401723235TGIF1c.241G>T (p.Asp81Tyr)
c.301G>T (p.Asp101Tyr)
c.688G>T (p.Asp230Tyr)
c.*14G>T (n.*14G>T)
c.343G>T (p.Asp115Tyr)
c.310G>T (p.Asp104Tyr)
18g.3457423A>CCA401723236TGIF1c.242A>C (p.Asp81Ala)
c.302A>C (p.Asp101Ala)
c.689A>C (p.Asp230Ala)
c.*15A>C (n.*15A>C)
c.344A>C (p.Asp115Ala)
c.311A>C (p.Asp104Ala)
18g.3457423A>GCA401723237TGIF1c.242A>G (p.Asp81Gly)
c.302A>G (p.Asp101Gly)
c.689A>G (p.Asp230Gly)
c.*15A>G (n.*15A>G)
c.344A>G (p.Asp115Gly)
c.311A>G (p.Asp104Gly)
18g.3457423A>TCA401723238TGIF1c.242A>T (p.Asp81Val)
c.302A>T (p.Asp101Val)
c.689A>T (p.Asp230Val)
c.*15A>T (n.*15A>T)
c.344A>T (p.Asp115Val)
c.311A>T (p.Asp104Val)
18g.3457424T>ACA401723240TGIF1c.243T>A (p.Asp81Glu)
c.303T>A (p.Asp101Glu)
c.690T>A (p.Asp230Glu)
c.*16T>A (n.*16T>A)
c.345T>A (p.Asp115Glu)
c.312T>A (p.Asp104Glu)
18g.3457424T>CCA502810366TGIF1c.243T>C (p.Asp81=)
c.303T>C (p.Asp101=)
c.690T>C (p.Asp230=)
c.*16T>C (n.*16T>C)
c.345T>C (p.Asp115=)
c.312T>C (p.Asp104=)
dbSNP gnomAD v3 gnomAD v4
18g.3457424T>GCA401723239TGIF1c.243T>G (p.Asp81Glu)
c.303T>G (p.Asp101Glu)
c.690T>G (p.Asp230Glu)
c.*16T>G (n.*16T>G)
c.345T>G (p.Asp115Glu)
c.312T>G (p.Asp104Glu)
18g.3457424T=CA2281035516TGIF1c.243T= (p.Asp81=)
c.303T= (p.Asp101=)
c.690T= (p.Asp230=)
c.*16T= (n.*16T=)
c.345T= (p.Asp115=)
c.312T= (p.Asp104=)
18g.3457425G>ACA401723241TGIF1c.244G>A (p.Gly82Ser)
c.304G>A (p.Gly102Ser)
c.691G>A (p.Gly231Ser)
c.*17G>A (n.*17G>A)
c.346G>A (p.Gly116Ser)
c.313G>A (p.Gly105Ser)
18g.3457425G>CCA401723242TGIF1c.244G>C (p.Gly82Arg)
c.304G>C (p.Gly102Arg)
c.691G>C (p.Gly231Arg)
c.*17G>C (n.*17G>C)
c.346G>C (p.Gly116Arg)
c.313G>C (p.Gly105Arg)
18g.3457425G>TCA401723243TGIF1c.244G>T (p.Gly82Cys)
c.304G>T (p.Gly102Cys)
c.691G>T (p.Gly231Cys)
c.*17G>T (n.*17G>T)
c.346G>T (p.Gly116Cys)
c.313G>T (p.Gly105Cys)
18g.3457426G>ACA401723244TGIF1c.245G>A (p.Gly82Asp)
c.305G>A (p.Gly102Asp)
c.692G>A (p.Gly231Asp)
c.*18G>A (n.*18G>A)
c.347G>A (p.Gly116Asp)
c.314G>A (p.Gly105Asp)
18g.3457426G>CCA401723245TGIF1c.245G>C (p.Gly82Ala)
c.305G>C (p.Gly102Ala)
c.692G>C (p.Gly231Ala)
c.*18G>C (n.*18G>C)
c.347G>C (p.Gly116Ala)
c.314G>C (p.Gly105Ala)
18g.3457426G>TCA401723246TGIF1c.245G>T (p.Gly82Val)
c.305G>T (p.Gly102Val)
c.692G>T (p.Gly231Val)
c.*18G>T (n.*18G>T)
c.347G>T (p.Gly116Val)
c.314G>T (p.Gly105Val)
18g.3457427C>ACA502810368TGIF1c.246C>A (p.Gly82=)
c.306C>A (p.Gly102=)
c.693C>A (p.Gly231=)
c.*19C>A (n.*19C>A)
c.348C>A (p.Gly116=)
c.315C>A (p.Gly105=)
18g.3457427C>GCA502810369TGIF1c.246C>G (p.Gly82=)
c.306C>G (p.Gly102=)
c.693C>G (p.Gly231=)
c.*19C>G (n.*19C>G)
c.348C>G (p.Gly116=)
c.315C>G (p.Gly105=)
18g.3457427C>TCA502810370TGIF1c.246C>T (p.Gly82=)
c.306C>T (p.Gly102=)
c.693C>T (p.Gly231=)
c.*19C>T (n.*19C>T)
c.348C>T (p.Gly116=)
c.315C>T (p.Gly105=)
gnomAD v4
18g.3457428A>CCA401723249TGIF1c.247A>C (p.Lys83Gln)
c.307A>C (p.Lys103Gln)
c.694A>C (p.Lys232Gln)
c.*20A>C (n.*20A>C)
c.349A>C (p.Lys117Gln)
c.316A>C (p.Lys106Gln)
18g.3457428A>GCA401723247TGIF1c.247A>G (p.Lys83Glu)
c.307A>G (p.Lys103Glu)
c.694A>G (p.Lys232Glu)
c.*20A>G (n.*20A>G)
c.349A>G (p.Lys117Glu)
c.316A>G (p.Lys106Glu)
18g.3457428A>TCA401723248TGIF1c.247A>T (p.Lys83Ter)
c.307A>T (p.Lys103Ter)
c.694A>T (p.Lys232Ter)
c.*20A>T (n.*20A>T)
c.349A>T (p.Lys117Ter)
c.316A>T (p.Lys106Ter)
18g.3457429A=CA2281035517TGIF1c.248A= (p.Lys83=)
c.308A= (p.Lys103=)
c.695A= (p.Lys232=)
c.*21A= (n.*21A=)
c.350A= (p.Lys117=)
c.317A= (p.Lys106=)
18g.3457429A>CCA401723250TGIF1c.248A>C (p.Lys83Thr)
c.308A>C (p.Lys103Thr)
c.695A>C (p.Lys232Thr)
c.*21A>C (n.*21A>C)
c.350A>C (p.Lys117Thr)
c.317A>C (p.Lys106Thr)
18g.3457429A>GCA401723251TGIF1c.248A>G (p.Lys83Arg)
c.308A>G (p.Lys103Arg)
c.695A>G (p.Lys232Arg)
c.*21A>G (n.*21A>G)
c.350A>G (p.Lys117Arg)
c.317A>G (p.Lys106Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.3457429A>TCA401723252TGIF1c.248A>T (p.Lys83Ile)
c.308A>T (p.Lys103Ile)
c.695A>T (p.Lys232Ile)
c.*21A>T (n.*21A>T)
c.350A>T (p.Lys117Ile)
c.317A>T (p.Lys106Ile)
18g.3457430A>CCA401723253TGIF1c.249A>C (p.Lys83Asn)
c.309A>C (p.Lys103Asn)
c.696A>C (p.Lys232Asn)
c.*22A>C (n.*22A>C)
c.351A>C (p.Lys117Asn)
c.318A>C (p.Lys106Asn)
18g.3457430A>GCA502810372TGIF1c.249A>G (p.Lys83=)
c.309A>G (p.Lys103=)
c.696A>G (p.Lys232=)
c.*22A>G (n.*22A>G)
c.351A>G (p.Lys117=)
c.318A>G (p.Lys106=)
18g.3457430A>TCA401723254TGIF1c.249A>T (p.Lys83Asn)
c.309A>T (p.Lys103Asn)
c.696A>T (p.Lys232Asn)
c.*22A>T (n.*22A>T)
c.351A>T (p.Lys117Asn)
c.318A>T (p.Lys106Asn)
18g.3457431G>ACA401723255TGIF1c.250G>A (p.Asp84Asn)
c.310G>A (p.Asp104Asn)
c.697G>A (p.Asp233Asn)
c.*23G>A (n.*23G>A)
c.352G>A (p.Asp118Asn)
c.319G>A (p.Asp107Asn)
dbSNP gnomAD v3 gnomAD v4
18g.3457431G>CCA401723256TGIF1c.250G>C (p.Asp84His)
c.310G>C (p.Asp104His)
c.697G>C (p.Asp233His)
c.*23G>C (n.*23G>C)
c.352G>C (p.Asp118His)
c.319G>C (p.Asp107His)
18g.3457431G=CA2281035518TGIF1c.250G= (p.Asp84=)
c.310G= (p.Asp104=)
c.697G= (p.Asp233=)
c.*23G= (n.*23G=)
c.352G= (p.Asp118=)
c.319G= (p.Asp107=)
18g.3457431G>TCA401723257TGIF1c.250G>T (p.Asp84Tyr)
c.310G>T (p.Asp104Tyr)
c.697G>T (p.Asp233Tyr)
c.*23G>T (n.*23G>T)
c.352G>T (p.Asp118Tyr)
c.319G>T (p.Asp107Tyr)
18g.3457432A>CCA401723258TGIF1c.251A>C (p.Asp84Ala)
c.311A>C (p.Asp104Ala)
c.698A>C (p.Asp233Ala)
c.*24A>C (n.*24A>C)
c.353A>C (p.Asp118Ala)
c.320A>C (p.Asp107Ala)
18g.3457432A>GCA401723259TGIF1c.251A>G (p.Asp84Gly)
c.311A>G (p.Asp104Gly)
c.698A>G (p.Asp233Gly)
c.*24A>G (n.*24A>G)
c.353A>G (p.Asp118Gly)
c.320A>G (p.Asp107Gly)
18g.3457432A>TCA401723260TGIF1c.251A>T (p.Asp84Val)
c.311A>T (p.Asp104Val)
c.698A>T (p.Asp233Val)
c.*24A>T (n.*24A>T)
c.353A>T (p.Asp118Val)
c.320A>T (p.Asp107Val)
18g.3457433T>ACA401723261TGIF1c.252T>A (p.Asp84Glu)
c.312T>A (p.Asp104Glu)
c.699T>A (p.Asp233Glu)
c.*25T>A (n.*25T>A)
c.354T>A (p.Asp118Glu)
c.321T>A (p.Asp107Glu)
18g.3457433T>CCA502810375TGIF1c.252T>C (p.Asp84=)
c.312T>C (p.Asp104=)
c.699T>C (p.Asp233=)
c.*25T>C (n.*25T>C)
c.354T>C (p.Asp118=)
c.321T>C (p.Asp107=)
18g.3457433T>GCA401723262TGIF1c.252T>G (p.Asp84Glu)
c.312T>G (p.Asp104Glu)
c.699T>G (p.Asp233Glu)
c.*25T>G (n.*25T>G)
c.354T>G (p.Asp118Glu)
c.321T>G (p.Asp107Glu)
18g.3457434C>ACA401723265TGIF1c.253C>A (p.Pro85Thr)
c.313C>A (p.Pro105Thr)
c.700C>A (p.Pro234Thr)
c.*26C>A (n.*26C>A)
c.355C>A (p.Pro119Thr)
c.322C>A (p.Pro108Thr)
18g.3457434C>GCA401723263TGIF1c.253C>G (p.Pro85Ala)
c.313C>G (p.Pro105Ala)
c.700C>G (p.Pro234Ala)
c.*26C>G (n.*26C>G)
c.355C>G (p.Pro119Ala)
c.322C>G (p.Pro108Ala)
18g.3457434C>TCA401723264TGIF1c.253C>T (p.Pro85Ser)
c.313C>T (p.Pro105Ser)
c.700C>T (p.Pro234Ser)
c.*26C>T (n.*26C>T)
c.355C>T (p.Pro119Ser)
c.322C>T (p.Pro108Ser)
dbSNP
18g.3457435C>ACA401723266TGIF1c.254C>A (p.Pro85Gln)
c.314C>A (p.Pro105Gln)
c.701C>A (p.Pro234Gln)
c.*27C>A (n.*27C>A)
c.356C>A (p.Pro119Gln)
c.323C>A (p.Pro108Gln)
18g.3457435C>GCA401723267TGIF1c.254C>G (p.Pro85Arg)
c.314C>G (p.Pro105Arg)
c.701C>G (p.Pro234Arg)
c.*27C>G (n.*27C>G)
c.356C>G (p.Pro119Arg)
c.323C>G (p.Pro108Arg)
18g.3457435C>TCA401723268TGIF1c.254C>T (p.Pro85Leu)
c.314C>T (p.Pro105Leu)
c.701C>T (p.Pro234Leu)
c.*27C>T (n.*27C>T)
c.356C>T (p.Pro119Leu)
c.323C>T (p.Pro108Leu)
18g.3457436A>CCA502810378TGIF1c.255A>C (p.Pro85=)
c.315A>C (p.Pro105=)
c.702A>C (p.Pro234=)
c.*28A>C (n.*28A>C)
c.357A>C (p.Pro119=)
c.324A>C (p.Pro108=)
18g.3457436A>GCA502810380TGIF1c.255A>G (p.Pro85=)
c.315A>G (p.Pro105=)
c.702A>G (p.Pro234=)
c.*28A>G (n.*28A>G)
c.357A>G (p.Pro119=)
c.324A>G (p.Pro108=)
18g.3457436A>TCA502810381TGIF1c.255A>T (p.Pro85=)
c.315A>T (p.Pro105=)
c.702A>T (p.Pro234=)
c.*28A>T (n.*28A>T)
c.357A>T (p.Pro119=)
c.324A>T (p.Pro108=)
18g.3457437A=CA2281035519TGIF1c.256A= (p.Asn86=)
c.316A= (p.Asn106=)
c.703A= (p.Asn235=)
c.*29A= (n.*29A=)
c.358A= (p.Asn120=)
c.325A= (p.Asn109=)
18g.3457437A>CCA401723269TGIF1c.256A>C (p.Asn86His)
c.316A>C (p.Asn106His)
c.703A>C (p.Asn235His)
c.*29A>C (n.*29A>C)
c.358A>C (p.Asn120His)
c.325A>C (p.Asn109His)
18g.3457437A>GCA401723270TGIF1c.256A>G (p.Asn86Asp)
c.316A>G (p.Asn106Asp)
c.703A>G (p.Asn235Asp)
c.*29A>G (n.*29A>G)
c.358A>G (p.Asn120Asp)
c.325A>G (p.Asn109Asp)
18g.3457437A>TCA401723271TGIF1c.256A>T (p.Asn86Tyr)
c.316A>T (p.Asn106Tyr)
c.703A>T (p.Asn235Tyr)
c.*29A>T (n.*29A>T)
c.358A>T (p.Asn120Tyr)
c.325A>T (p.Asn109Tyr)
dbSNP gnomAD v4
18g.3457438A>CCA401723272TGIF1c.257A>C (p.Asn86Thr)
c.317A>C (p.Asn106Thr)
c.704A>C (p.Asn235Thr)
c.*30A>C (n.*30A>C)
c.359A>C (p.Asn120Thr)
c.326A>C (p.Asn109Thr)
18g.3457438A>GCA401723273TGIF1c.257A>G (p.Asn86Ser)
c.317A>G (p.Asn106Ser)
c.704A>G (p.Asn235Ser)
c.*30A>G (n.*30A>G)
c.359A>G (p.Asn120Ser)
c.326A>G (p.Asn109Ser)
gnomAD v4
18g.3457438A>TCA401723274TGIF1c.257A>T (p.Asn86Ile)
c.317A>T (p.Asn106Ile)
c.704A>T (p.Asn235Ile)
c.*30A>T (n.*30A>T)
c.359A>T (p.Asn120Ile)
c.326A>T (p.Asn109Ile)
18g.3457439T>ACA401723275TGIF1c.258T>A (p.Asn86Lys)
c.318T>A (p.Asn106Lys)
c.705T>A (p.Asn235Lys)
c.*31T>A (n.*31T>A)
c.360T>A (p.Asn120Lys)
c.327T>A (p.Asn109Lys)
18g.3457439T>CCA502810383TGIF1c.258T>C (p.Asn86=)
c.318T>C (p.Asn106=)
c.705T>C (p.Asn235=)
c.*31T>C (n.*31T>C)
c.360T>C (p.Asn120=)
c.327T>C (p.Asn109=)
18g.3457439T>GCA401723276TGIF1c.258T>G (p.Asn86Lys)
c.318T>G (p.Asn106Lys)
c.705T>G (p.Asn235Lys)
c.*31T>G (n.*31T>G)
c.360T>G (p.Asn120Lys)
c.327T>G (p.Asn109Lys)
18g.3457440C>ACA401723277TGIF1c.259C>A (p.Gln87Lys)
c.319C>A (p.Gln107Lys)
c.706C>A (p.Gln236Lys)
c.*32C>A (n.*32C>A)
c.361C>A (p.Gln121Lys)
c.328C>A (p.Gln110Lys)
gnomAD v4
18g.3457440C>GCA401723278TGIF1c.259C>G (p.Gln87Glu)
c.319C>G (p.Gln107Glu)
c.706C>G (p.Gln236Glu)
c.*32C>G (n.*32C>G)
c.361C>G (p.Gln121Glu)
c.328C>G (p.Gln110Glu)
18g.3457440C>TCA401723279TGIF1c.259C>T (p.Gln87Ter)
c.319C>T (p.Gln107Ter)
c.706C>T (p.Gln236Ter)
c.*32C>T (n.*32C>T)
c.361C>T (p.Gln121Ter)
c.328C>T (p.Gln110Ter)
ClinVar
18g.3457441A=CA2281035520TGIF1c.260A= (p.Gln87=)
c.320A= (p.Gln107=)
c.707A= (p.Gln236=)
c.*33A= (n.*33A=)
c.362A= (p.Gln121=)
c.329A= (p.Gln110=)
18g.3457441A>CCA401723280TGIF1c.260A>C (p.Gln87Pro)
c.320A>C (p.Gln107Pro)
c.707A>C (p.Gln236Pro)
c.*33A>C (n.*33A>C)
c.362A>C (p.Gln121Pro)
c.329A>C (p.Gln110Pro)
18g.3457441A>GCA8875928TGIF1c.260A>G (p.Gln87Arg)
c.320A>G (p.Gln107Arg)
c.707A>G (p.Gln236Arg)
c.*33A>G (n.*33A>G)
c.362A>G (p.Gln121Arg)
c.329A>G (p.Gln110Arg)
dbSNP ExAC gnomAD v2
18g.3457441A>TCA254034TGIF1c.260A>T (p.Gln87Leu)
c.320A>T (p.Gln107Leu)
c.707A>T (p.Gln236Leu)
c.*33A>T (n.*33A>T)
c.362A>T (p.Gln121Leu)
c.329A>T (p.Gln110Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched